Article
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Frontiers in immunology - 1 Jan 2020
Benavides Nathalia, Spessott Waldo A, Sanmillan Maria L, Vargas Marcelo, Livingston Mylynda S, Erickson Nissa, Pozos Tamara C, McCormick Margaret E, Scharrig Emilia, Messinger Yoav H, Giraudo Claudio G
Abstract excerpt
Neonatal hemophagocytic lymphohistiocytosis (HLH) is a medical emergency that can be associated with significant morbidity and mortality. Often these patients present with familial HLH (f-HLH), which is caused by gene mutations interfering with the cytolytic pathway of cytotoxic T-lymphocytes (CTLs) and natural killer cells. Here we describe a male newborn who met the HLH diagnostic criteria, presented with...
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